{
  "id": 9723,
  "label": "septooptic dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008428",
  "properties": {
    "xrefs": [
      "DOID:0060857",
      "GARD:0007627",
      "MEDGEN:90926",
      "MESH:D025962",
      "MedDRA:10067159",
      "NANDO:1200560",
      "NANDO:1200561",
      "NANDO:2200820",
      "NCIT:C85063",
      "OMIM:182230",
      "Orphanet:3157",
      "SCTID:7611002",
      "UMLS:C0338503"
    ],
    "synonyms": [
      "De Morsier syndrome",
      "SOD",
      "septo-optic dysplasia",
      "septo-optic dysplasia sequence",
      "septooptic dysplasia",
      "Growth hormone deficiency with pituitary anomalies",
      "hypopituitarism and septooptic 'dysplasia'",
      "pituitary hormone deficiency, combined, 5",
      "septo-optic dysplasia spectrum",
      "septo-optic dysplasia with growth hormone deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2905,
      "label": "autosomal genetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050739",
          "ICD9:758.5",
          "MEDGEN:539205",
          "SCTID:1899006",
          "UMLS:C0265384"
        ],
        "synonyms": [
          "autosomal hereditary disorder",
          "autosomal inherited disease",
          "autosomal inherited disorder"
        ],
        "definition": "A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes."
      },
      "child_count": 8,
      "reference_id": "MONDO:0000429"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 14137,
      "label": "combined pituitary hormone deficiencies, genetic form",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        6876,
        16526,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010602",
          "MEDGEN:906592",
          "OMIMPS:613038",
          "Orphanet:95494",
          "SCTID:718182008",
          "UMLS:C4273747"
        ],
        "synonyms": [
          "familial congenital hypopituitarism",
          "genetic hypopituitarism",
          "multiple pituitary hormone deficiencies, genetic forms",
          "pituitary hormone deficiency, combined",
          "combined pituitary hormone deficiencies, genetic forms",
          "familial hypopituitarism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy."
      },
      "child_count": 36,
      "reference_id": "MONDO:0013099"
    }
  ],
  "children": [
    {
      "id": 20844,
      "label": "congenital absence of septum pellucidum",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9723,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009253",
          "ICD9:742.4",
          "MEDGEN:96561",
          "MESH:C535562",
          "SCTID:253143001",
          "UMLS:C0431371"
        ],
        "synonyms": [
          "absence of septum pellucidum"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made."
      },
      "child_count": 0,
      "reference_id": "MONDO:0022349"
    },
    {
      "id": 23146,
      "label": "pagon stephan syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9723
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004195",
          "MEDGEN:419885",
          "MESH:C538100",
          "UMLS:C2931733"
        ],
        "synonyms": [
          "septo-optic dysplasia with digital anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0043162"
    }
  ],
  "roots": [
    {
      "id": 2905,
      "label": "autosomal genetic disease"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 14137,
      "label": "combined pituitary hormone deficiencies, genetic form"
    }
  ]
}